Myocardial Perfusion Defects in Hypertrophic Cardiomyopathy Mutation Carriers
Background Impaired myocardial blood flow (MBF) in the absence of epicardial coronary disease is a feature of hypertrophic cardiomyopathy (HCM). Although most evident in hypertrophied or scarred segments, reduced MBF can occur in apparently normal segments. We hypothesized that impaired MBF and myoc...
| Main Authors: | , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2021-08-01
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| Series: | Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease |
| Subjects: | |
| Online Access: | https://www.ahajournals.org/doi/10.1161/JAHA.120.020227 |
| _version_ | 1828813158498697216 |
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| author | Rebecca K. Hughes Claudia Camaioni João B. Augusto Kristopher Knott Ellie Quinn Gabriella Captur Andreas Seraphim George Joy Petros Syrris Perry M. Elliott Saidi Mohiddin Peter Kellman Hui Xue Luis R. Lopes James C. Moon |
| author_facet | Rebecca K. Hughes Claudia Camaioni João B. Augusto Kristopher Knott Ellie Quinn Gabriella Captur Andreas Seraphim George Joy Petros Syrris Perry M. Elliott Saidi Mohiddin Peter Kellman Hui Xue Luis R. Lopes James C. Moon |
| author_sort | Rebecca K. Hughes |
| collection | DOAJ |
| description | Background Impaired myocardial blood flow (MBF) in the absence of epicardial coronary disease is a feature of hypertrophic cardiomyopathy (HCM). Although most evident in hypertrophied or scarred segments, reduced MBF can occur in apparently normal segments. We hypothesized that impaired MBF and myocardial perfusion reserve, quantified using perfusion mapping cardiac magnetic resonance, might occur in the absence of overt left ventricular hypertrophy (LVH) and late gadolinium enhancement, in mutation carriers without LVH criteria for HCM (genotype‐positive, left ventricular hypertrophy‐negative). Methods and Results A single center, case‐control study investigated MBF and myocardial perfusion reserve (the ratio of MBF at stress:rest), along with other pre‐phenotypic features of HCM. Individuals with genotype‐positive, left ventricular hypertrophy‐negative (n=50) with likely pathogenic/pathogenic variants and no evidence of LVH, and matched controls (n=28) underwent cardiac magnetic resonance. Cardiac magnetic resonance identified LVH‐fulfilling criteria for HCM in 5 patients who were excluded. Individuals with genotype‐positive, left ventricular hypertrophy‐negative had longer indexed anterior mitral valve leaflet length (12.52±2.1 versus 11.55±1.6 mm/m2, P=0.03), lower left ventricular end‐systolic volume (21.0±6.9 versus 26.7±6.2 mm/m2, P≤0.005) and higher left ventricular ejection fraction (71.9±5.5 versus 65.8±4.4%, P≤0.005). Maximum wall thickness was not significantly different (9.03±1.95 versus 8.37±1.2 mm, P=0.075), and no subject had significant late gadolinium enhancement (minor right ventricle‒insertion point late gadolinium enhancement only). Perfusion mapping demonstrated visual perfusion defects in 9 (20%) carriers versus 0 controls (P=0.011). These were almost all septal or near right ventricle insertion points. Globally, myocardial perfusion reserve was lower in carriers (2.77±0.83 versus 3.24±0.63, P=0.009), with a subendocardial:subepicardial myocardial perfusion reserve gradient (2.55±0.75 versus 3.2±0.65, P=<0.005; 3.01±0.96 versus 3.47±0.75, P=0.026) but equivalent MBF (2.75±0.82 versus 2.65±0.69 mL/g per min, P=0.826). Conclusions Regional and global impaired myocardial perfusion can occur in HCM mutation carriers, in the absence of significant hypertrophy or scarring. |
| first_indexed | 2024-12-12T09:55:21Z |
| format | Article |
| id | doaj.art-00a1f3265def4676baa940ab9666b4c6 |
| institution | Directory Open Access Journal |
| issn | 2047-9980 |
| language | English |
| last_indexed | 2024-12-12T09:55:21Z |
| publishDate | 2021-08-01 |
| publisher | Wiley |
| record_format | Article |
| series | Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease |
| spelling | doaj.art-00a1f3265def4676baa940ab9666b4c62022-12-22T00:28:08ZengWileyJournal of the American Heart Association: Cardiovascular and Cerebrovascular Disease2047-99802021-08-01101510.1161/JAHA.120.020227Myocardial Perfusion Defects in Hypertrophic Cardiomyopathy Mutation CarriersRebecca K. Hughes0Claudia Camaioni1João B. Augusto2Kristopher Knott3Ellie Quinn4Gabriella Captur5Andreas Seraphim6George Joy7Petros Syrris8Perry M. Elliott9Saidi Mohiddin10Peter Kellman11Hui Xue12Luis R. Lopes13James C. Moon14Institute of Cardiovascular ScienceUniversity College London London UKBarts Heart CentreThe Cardiovascular Magnetic Resonance Imaging Unit and The Inherited Cardiovascular Diseases UnitSt Bartholomew’s Hospital London UKInstitute of Cardiovascular ScienceUniversity College London London UKInstitute of Cardiovascular ScienceUniversity College London London UKBarts Heart CentreThe Cardiovascular Magnetic Resonance Imaging Unit and The Inherited Cardiovascular Diseases UnitSt Bartholomew’s Hospital London UKInstitute of Cardiovascular ScienceUniversity College London London UKInstitute of Cardiovascular ScienceUniversity College London London UKBarts Heart CentreThe Cardiovascular Magnetic Resonance Imaging Unit and The Inherited Cardiovascular Diseases UnitSt Bartholomew’s Hospital London UKInstitute of Cardiovascular ScienceUniversity College London London UKInstitute of Cardiovascular ScienceUniversity College London London UKBarts Heart CentreThe Cardiovascular Magnetic Resonance Imaging Unit and The Inherited Cardiovascular Diseases UnitSt Bartholomew’s Hospital London UKNational Heart, Lung, and Blood InstituteNational Institutes of HealthDHHS Bethesda MDNational Heart, Lung, and Blood InstituteNational Institutes of HealthDHHS Bethesda MDInstitute of Cardiovascular ScienceUniversity College London London UKInstitute of Cardiovascular ScienceUniversity College London London UKBackground Impaired myocardial blood flow (MBF) in the absence of epicardial coronary disease is a feature of hypertrophic cardiomyopathy (HCM). Although most evident in hypertrophied or scarred segments, reduced MBF can occur in apparently normal segments. We hypothesized that impaired MBF and myocardial perfusion reserve, quantified using perfusion mapping cardiac magnetic resonance, might occur in the absence of overt left ventricular hypertrophy (LVH) and late gadolinium enhancement, in mutation carriers without LVH criteria for HCM (genotype‐positive, left ventricular hypertrophy‐negative). Methods and Results A single center, case‐control study investigated MBF and myocardial perfusion reserve (the ratio of MBF at stress:rest), along with other pre‐phenotypic features of HCM. Individuals with genotype‐positive, left ventricular hypertrophy‐negative (n=50) with likely pathogenic/pathogenic variants and no evidence of LVH, and matched controls (n=28) underwent cardiac magnetic resonance. Cardiac magnetic resonance identified LVH‐fulfilling criteria for HCM in 5 patients who were excluded. Individuals with genotype‐positive, left ventricular hypertrophy‐negative had longer indexed anterior mitral valve leaflet length (12.52±2.1 versus 11.55±1.6 mm/m2, P=0.03), lower left ventricular end‐systolic volume (21.0±6.9 versus 26.7±6.2 mm/m2, P≤0.005) and higher left ventricular ejection fraction (71.9±5.5 versus 65.8±4.4%, P≤0.005). Maximum wall thickness was not significantly different (9.03±1.95 versus 8.37±1.2 mm, P=0.075), and no subject had significant late gadolinium enhancement (minor right ventricle‒insertion point late gadolinium enhancement only). Perfusion mapping demonstrated visual perfusion defects in 9 (20%) carriers versus 0 controls (P=0.011). These were almost all septal or near right ventricle insertion points. Globally, myocardial perfusion reserve was lower in carriers (2.77±0.83 versus 3.24±0.63, P=0.009), with a subendocardial:subepicardial myocardial perfusion reserve gradient (2.55±0.75 versus 3.2±0.65, P=<0.005; 3.01±0.96 versus 3.47±0.75, P=0.026) but equivalent MBF (2.75±0.82 versus 2.65±0.69 mL/g per min, P=0.826). Conclusions Regional and global impaired myocardial perfusion can occur in HCM mutation carriers, in the absence of significant hypertrophy or scarring.https://www.ahajournals.org/doi/10.1161/JAHA.120.020227geneticshypertrophic cardiomyopathyquantitative perfusion mappingsarcomere mutations carriers without hypertrophy |
| spellingShingle | Rebecca K. Hughes Claudia Camaioni João B. Augusto Kristopher Knott Ellie Quinn Gabriella Captur Andreas Seraphim George Joy Petros Syrris Perry M. Elliott Saidi Mohiddin Peter Kellman Hui Xue Luis R. Lopes James C. Moon Myocardial Perfusion Defects in Hypertrophic Cardiomyopathy Mutation Carriers Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease genetics hypertrophic cardiomyopathy quantitative perfusion mapping sarcomere mutations carriers without hypertrophy |
| title | Myocardial Perfusion Defects in Hypertrophic Cardiomyopathy Mutation Carriers |
| title_full | Myocardial Perfusion Defects in Hypertrophic Cardiomyopathy Mutation Carriers |
| title_fullStr | Myocardial Perfusion Defects in Hypertrophic Cardiomyopathy Mutation Carriers |
| title_full_unstemmed | Myocardial Perfusion Defects in Hypertrophic Cardiomyopathy Mutation Carriers |
| title_short | Myocardial Perfusion Defects in Hypertrophic Cardiomyopathy Mutation Carriers |
| title_sort | myocardial perfusion defects in hypertrophic cardiomyopathy mutation carriers |
| topic | genetics hypertrophic cardiomyopathy quantitative perfusion mapping sarcomere mutations carriers without hypertrophy |
| url | https://www.ahajournals.org/doi/10.1161/JAHA.120.020227 |
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